ID   GM13437
AC   CVCL_5P78
DR   CLO; CLO_0012665
DR   Coriell; GM13437
DR   Wikidata; Q54846528
CC   Sequence variation: Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Thr116Lys (c.347C>A) (T115K); Zygosity=Hemizygous (Coriell=GM13437).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75487; Pelizaeus-Merzbacher disease
DI   ORDO; Orphanet_702; Pelizaeus-Merzbacher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
//